Sickle Cell Disease results from red blood cells that, instead of being round, are shaped like a farmer’s sickle.
This abnormal shape is due to the presence of an abnormal protein, called sickle (S) hemoglobin (Hb) within the cells, instead of the normal protein called Hb A. Hemoglobin is the substance that delivers oxygen from the air that we breathe in to all parts of our body. Sickled red blood cells do not flow smoothly in the body’s circulatory system and may block normal flow, resulting in shortage of oxygen supply to the body tissues.
Blocked circulation can lead to acute attacks of intense pain throughout the body, especially the skeleton. Acute and chronic lack of oxygen can result in damage to any organ of the body.
“One gene, one character”
Let’s start at the beginning: In general, each of our biological characters is determined by a gene that is passed down from one generation to the next, a process that can be simplified in the slogan: “One gene, one character”. This statement is always true, whether for a normal character or for an abnormal one. Genes are packets of information carried in chromosome pairs that are the information system of the body.
Some abnormal genes are so powerful that just one copy in one chromosome is enough to lead to serious disease, whilst in the case of others, two copies of the abnormal gene, one on each of the chromosome pairs must be present in order to result in disease. This is the case for sickle cell disease (SCD), also known as sickle cell anemia. Here, two copies of the abnormal gene must always be present, one copy from one parent and one from the other parent.
Getting sickle cell disease is like a lottery. First, it requires that both parents must carry the responsible gene and, transmitting the gene to their child is like the rolling of the dice in a game of chance.
If, in that game, the sickle cell gene rolls up, then the child will have some manifestation of the sickle hemoglobin. That is a fact of biology that cannot be escaped.
If only one parent transmits the gene the child will inherit only the “trait.” In that case, that child, too, will become a carrier and will be able to transmit the gene to his/her children also. But if, in having a child, a parent and his or her partner also transmits the same gene, that child will get SCD.
And someone with SCD is also a carrier, obviously. A double carrier, in this case. Here, the odds are shortened, meaning that the children will always inherit a sickle cell gene from such a parent.
The clinical outcome, however, depends on whether the other parent also carries the sickle cell gene. If the partner doesn’t, then the odds lengthen and the worst-case scenario is that all the children will have just the trait, without disease. But if the partner also has the sickle trait, then the odds are shortened again and one half of the children will have full-blown sickle cell disease while the other half will be merely trait carriers without disease. If the partner also has SCD then it is a dead cert that all of the children, without exception, will also have SCD.
SCD occurs in many different regions of the world, including the Middle East, Greece, Italy and India. However, SCD is most common in Africa and among people of African descent, wherever they live. Sierra Leone, lying bang in between the Tropics, on the west coast of Africa, is a typical country for SCD.
Unfortunately, there is, as yet, no universally available cure for SCD. However, there are many ways by which the potential problems sickle cell presents can be reduced. To find out more, speak to your doctor.
Because SCD can only be inherited, considering prevention is already too late when a baby is born. And so, the only way SCD can be prevented is by making sure that you and your partner are not both carriers of the responsible gene. Therefore, you and your partner must get tested for the gene before you make a decision about having children. The results of the test will help guide you and your doctor as to the potential outcomes.
The Sierra Leone Sickle Cell Disease Foundation
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